Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: APOB: D2312D; rs1041968

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: APOB: D2312D

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

View BVdb publication page

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: APOB: D2312D; rs1041968

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s7.xlsx, sheet 1

View BVdb publication page

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Multitrait GWAS to connect disease variants and biological mechanisms.

Plos Genetics

Julienne, Hanna H; Laville, Vincent V; McCaw, Zachary R ZR; He, Zihuai Z; Guillemot, Vincent V; Lasry, Carla C; Ziyatdinov, Andrey A; Nerin, Cyril C; Vaysse, Amaury A; Lechat, Pierre P; Ménager, Hervé H; Le Goff, Wilfried W; Dube, Marie-Pierre MP; Kraft, Peter P; Ionita-Laza, Iuliana I; Vilhjálmsson, Bjarni J BJ; Aschard, Hugues H

Publication Date: 2021-08

Variant appearance in text: rs1041968

PubMed Link: 34460823

Variant Present in the following documents:

• Main text
• pgen.1009713.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: APOB: 6936C>T; D2312D; rs1041968

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Influence of multiple apolipoprotein A-I and B genetic variations on insulin resistance and metabolic syndrome in obstructive sleep apnea.

Nutrition & Metabolism

Li, Xinyi X; Fu, Zhihui Z; Xu, Huajun H; Zou, Jianyin J; Zhu, Huaming H; Li, Zhiqiang Z; Su, Kaiming K; Huai, De ; Yi, Hongliang H; Guan, Jian J; Yin, Shankai S

Publication Date: 2020

Variant appearance in text: rs1041968

PubMed Link: 33005209

Variant Present in the following documents:

• Main text
• 12986_2020_Article_501.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: APOB: 6936C>T; Asp2312=; rs1041968

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: APOB: 6936C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1041968

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: APOB: 6936C>T; rs1041968

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.

Nature Communications

Natarajan, Pradeep P; Peloso, Gina M GM; Zekavat, Seyedeh Maryam SM; Montasser, May M; Ganna, Andrea A; Chaffin, Mark M; Khera, Amit V AV; Zhou, Wei W; Bloom, Jonathan M JM; Engreitz, Jesse M JM; Ernst, Jason J; O'Connell, Jeffrey R JR; Ruotsalainen, Sanni E SE; Alver, Maris M; Manichaikul, Ani A; Johnson, W Craig WC; Perry, James A JA; Poterba, Timothy T; Seed, Cotton C; Surakka, Ida L IL; Esko, Tonu T; Ripatti, Samuli S; Salomaa, Veikko V; Correa, Adolfo A; Vasan, Ramachandran S RS; Kellis, Manolis M; Neale, Benjamin M BM; Lander, Eric S ES; Abecasis, Goncalo G; Mitchell, Braxton B; Rich, Stephen S SS; Wilson, James G JG; Cupples, L Adrienne LA; Rotter, Jerome I JI; Willer, Cristen J CJ; Kathiresan, Sekar S; ,

Publication Date: 2018-08-23

Variant appearance in text: rs1041968

PubMed Link: 30140000

Variant Present in the following documents:

• 41467_2018_5747_MOESM1_ESM.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: APOB: 6936C>T; D2312D; rs1041968

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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Association of MTTP gene variants with pediatric NAFLD: A candidate-gene-based analysis of single nucleotide variations in obese children.

Plos One

Dai, Dongling D; Wen, Feiqiu F; Zhou, Shaoming S; Su, Zhe Z; Liu, Guosheng G; Wang, Mingbang M; Zhou, Jianli J; He, Fusheng F

Publication Date: 2017

Variant appearance in text: APOB: 6936C>T; D2312D; rs1041968

PubMed Link: 28953935

Variant Present in the following documents:

• pone.0185396.s001.xls, sheet 1
• pone.0185396.s001.xls, sheet 3
• pone.0185396.s001.xls, sheet 2

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: APOB: 6936C>T; Asp2312=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: APOB: D2312D; rs1041968

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: rs1041968

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.

Molecular Genetics & Genomic Medicine

Thomas, Ellen R A ER; Atanur, Santosh S SS; Norsworthy, Penny J PJ; Encheva, Vesela V; Snijders, Ambrosius P AP; Game, Laurence L; Vandrovcova, Jana J; Siddiq, Afshan A; Seed, Mary M; Soutar, Anne K AK; Aitman, Timothy J TJ

Publication Date: 2013-09

Variant appearance in text: rs1041968

PubMed Link: 24498611

Variant Present in the following documents:

• mgg30001-0155.pdf

View BVdb publication page

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Genetic variation in healthy oldest-old.

Plos One

Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR

Publication Date: 2009-08-14

Variant appearance in text: rs1041968

PubMed Link: 19680556

Variant Present in the following documents:

• pone.0006641.s001.xls, sheet 1

View BVdb publication page

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